Aromatic L-Aminoacid Decarboxylase Deficiency A Defect of the Neurotransmitter Metabolism with Severe Neurological Impairment

A descarboxilase dos L-aminoácidos aromáticos, um enzima piridoxina dependente, é responsável pela conversão da L-dopa em dopamina e do 5 hidroxitriptofano em serotonina. A deficiência desse enzima, um erro inato do metabolismo dos neurotransmissores, resulta numa doença autossómica recessiva com manifestações neurológicas graves. Os dois casos apresentados de deficiência da descarboxilase dos L-aminoácidos aromáticos, entidade pela primeira vez descrita no nosso país, apresentam características clínicas semelhantes, resultantes da disfunção do metabolismo aminérgico: hipotonia, distonia, atraso no desenvolvimento psicomotor, episódios de movimentos oculógiros, irritabilidade e instabilidade vasomotora. A tomografia computadorizada e a ressonância magnética cerebrais foram normais em ambos os casos. Os exames bioquímicos e o estudo da actividade enzimática permitiram fazer o diagnóstico de deficiência da descarboxilase dos L-aminoácidos aromáticos. O nosso objectivo é chamar a atenção para a necessidade de investigar os defeitos do metabolismo dos neurotransmilissores na presença de Uma doença neurológica crónica sem etiologia conhecida. A importância de colocar este diagnóstico diferencial, o mais precocemente possível, advém das possibilidades de terapêutica, aconselhamento genético adequado e diagnóstico pré-natal, já hoje existentes

Motor Imagery Detection Toward Non-Invasive Brainwave Based Typing

Electroencephalography (EEG) signals can be captured non-invasively with the help of Brain-Computer Interfaces (BCI). These EEG signals contain many essential information that can serve a great purpose when used correctly. By the appropriate interpretation of this EEG signal, we can provide people with limited ability to perform certain actions which they are unable to do due to their current condition. Paralyzed and semi-paralyzed people who are often found struggling to express themselves due to their medical condition can greatly benefit from the application of EEG. Typing or writing a letter requires functional motor movement. If we can detect the motor imagery movement from the EEG signal and determine the intent of the subject who is unable to perform motor functions but is imagining them, we can apply it to determine what they are trying to express in typed textual format. However, extracting features from EEG signals is incredibly challenging as EEG is susceptible to noise. Due to the absence of any informative association between the signals and the activity of the brain detecting motor movements and classifying them is difficult. Deep neural networks are proficient in understanding complicated features and performing computation which is very demanding. In this paper, we utilize the potential of deep neural networks to develop a model which is able to identify the motor imagery movement from the EEG signal of a subject. We envision to use this motor imagery obtained from the non-invasive brainwave to move the cursor using user thought to write letters and form words

Coulomb breakup effects on the optical potentials of weakly bound nuclei

The optical potential of halo and weakly bound nuclei has a long range part due to the coupling to breakup that damps the elastic scattering angular distributions. In order to describe correctly the breakup channel in the case of scattering on a heavy target, core recoil effects have to be taken into account. We show here that core recoil and nuclear breakup of the valence nucleon can be consistently taken into account. A microscopic absorptive potential is obtained within a semiclassical approach and its characteristics can be understood in terms of the properties of the halo wave function and of the reaction mechanism. Results for the case of medium to high energy reactions are presented.Comment: 25 latex pages, 4 tables, 6 figures. Submitted to Nucl. Phys.

Cdkn2a inactivation promotes malignant transformation of mouse immature thymocytes before the β-selection checkpoint

CDKN2A deletion is the most frequent genetic alteration in T-cell acute lymphoblastic leukemia (T-ALL), occurring across all molecular and immunophenotypic subtypes. CDKN2A encodes two functionally unrelated tumor suppressor proteins, ARF and INK4a, which are critical regulators of cell cycle and proliferation. Arf has been reported to suppress T-ALL development in post−b-selection thymocytes, but whether CDKN2A acts as a tumor suppressor gene in immature, pre−b-selection thymocytes remains to be elucidated. Resorting to a Rag2-deficient model of T-ALL, driven by the ETV6:: JAK2 fusion, we report that Cdkn2a haploinsufficiency at early stages of T-cell development facilitates leukemia developmentPPBI-POCI-01-0145-FEDER-022122; POCI-01-0145-FEDER-007274; NORTE01-0145-FEDER-000029info:eu-repo/semantics/publishedVersio

Chronic hepatitis C treatment in HIV co-infection in Portugal: Results from a cohort OF 2133 patients presented by GEPCOI (Portuguese Coinfection Study Group)

Direct-acting antiviral drugs (DAAs) have recently changed the paradigm of hepatitis C therapy, significantly improving treatment response rates, patient life expectancy and quality of life. In Portugal, sofosbuvir (SOF) and SOF/ledipasvir (SOF/LDV) were fully reimbursed by the National Health System since early 2015 and generalized use of interferon-free DAA based regimens became current practice. During 2016, the remaining DAAs were sequentially added and covered by the same health access policy. The Portuguese Study Group of Hepatitis and HIV Co-infection (GEPCOI) collected data from 15 clinical centres in Portugal, pertaining to the HCV treatment experience with DAA regimens. A cohort of 2133 patients was analysed, representing one of the largest DAA treated HCV/HIV co-infected individuals. The global sustained virologic response (SVR) achieved was 95% in this real-life cohort setting. Linear regression analysis showed significant differences in treatment response rates when using SOF plus ribavirin (RBV) combination in genotype 2 or 3 infected individuals (P < .002) and in those with liver cirrhosis (P < .002). These findings corroborate that early treatment is mandatory in HIV/HCV co-infected patients, as response rates may be negatively influenced by higher fibrosis stages and suboptimal DAA regimens. The current national Portuguese health policy should continue to promote wider treatment access and individualized therapy strategies, aiming at the elimination of HCV infection in this high-risk co-infected populationinfo:eu-repo/semantics/publishedVersio

Broiler Chickens as Source of Human Fluoroquinolone-Resistant Escherichia coli, Iceland

To investigate feed as a source for fluoroquinolone-resistant Escherichia coli in broiler chickens, we compared antimicrobial drug–resistant E. coli from broiler feed and broilers with ciprofloxacin-resistant human clinical isolates by using pulsed-field gel electrophoresis. Feed was implicated as a source for ciprofloxacin-resistant broiler-derived E. coli and broilers as a source for ciprofloxacin-resistant human-derived E. coli

Sarna Crostosa em Doente com Infecção VIH

A infecção pelo VIH predispõe à ocorrência de múltiplas dermatoses que se manifestam frequentemente de forma atípica. Reporta-se o caso de um homem com 57 anos e imunossupressão grave no contexto de infecção pelo VIH que desenvolveu dermatose pruriginosa disseminada aquando de internamento hospitalar prolongado. Tendo por base as características do doente, as queixas e a distribuição corporal das lesões, e apesar de não existirem lesões típicas nem contexto epidemiológico sugestivo, foi admitido o diagnóstico de escabiose, com realização de biópsias cutâneas e dois ciclos de tratamento com benzoato de benzilo, apenas com melhoria transitória. Na repetição de biópsia, viria a confirmar-se hiperinfestação por Sarcoptes scabiei pelo que foi realizado ciclo de tratamento com ivermectina com resolução completa das lesões. A propósito deste caso clínico, os autores revêm aspectos clínicos e o tratamento da sarna crostosa.info:eu-repo/semantics/publishedVersio

Systemic lupus erythematosus and diffuse alveolar hemorrhage, etiology and novel treatment strategies.

Diffuse alveolar hemorrhage is a severe respiratory complication of systemic lupus erythematosus. The illness develops over hours to a few days and is the systemic lupus erythematosus-associated syndrome with highest mortality. Although no specific symptoms have been identified, a number of features are associated with diffuse alveolar hemorrhage, with a drop in blood hemoglobin the most prominent. Dyspnea, blood-stained sputum, diffuse infiltrates identified by chest imaging, elevated single breath-diffusing capacity for monoxide, thrombocytopenia and C3 hypocomplementemia are other commonly reported signs of diffuse alveolar hemorrhage. The etiology is not completely understood but many patients develop diffuse alveolar hemorrhage concomitant with lupus nephritis, suggesting immune complex-driven pathology. Biopsy studies have identified both cases with capillaritis and a bland non-inflammatory phenotype. An animal model of diffuse alveolar hemorrhage has indicated requirement of B lymphocytes and complement receptor-mediated apoptotic body phagocytosis by monocytes as part of the pathogenesis. This review will discuss considerations when diagnosing the condition and available therapies. Infections and other causes of hemorrhage have to be excluded as these require different treatment strategies. Methylprednisolone and cyclophosphamide remain the most commonly used therapies. Plasmapheresis and rituximab are other beneficial treatment options. A few studies have also considered intrapulmonary Factor VII therapy, extracorporeal membrane oxygenation and mesenchymal stem cell therapy. There is an unmet need of better definition of diffuse alveolar hemorrhages etiology and pathology for development of improved treatment strategies

Sociodemographic and clinical characteristics of patients with asthma who were prescribed ≥3 SABA canisters/year in the SABINA International study

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Over-the-counter (OTC) short-acting β2-agonist (SABA) purchase and asthma outcomes in SABINA III

Peer reviewedPostprin